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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1FGFR3Ex3NM_000142.4:c.130G>Ap.Gly44Ser | p.G44SLRG_1021t1:c.130G>A, LRG_1021t2:c.130G>A, NM_000142.3:c.130G>A, NM_000142.4:c.130G>A, NM_001163213.1:c.130G>A, NM_022965.2:c.130G>A, NM_022965.3:c.130G>ALikely benign10/13/2016 
2FGFR3Ex3NM_000142.4:c.150C>Tp.Val50= | p.V50=NM_000142.3:c.150C>T, NM_000142.4:c.150C>T, NM_001163213.1:c.150C>T, NM_022965.2:c.150C>T, NM_022965.3:c.150C>TVOUS10/04/2015
3FGFR3Ex3NM_000142.4:c.158G>Cp.Ser53Thr | p.S53TLRG_1021t1:c.158G>C, LRG_1021t2:c.158G>C, NM_000142.3:c.158G>C, NM_000142.4:c.158G>C, NM_001163213.1:c.158G>C, NM_022965.2:c.158G>C, NM_022965.3:c.158G>CVOUS05/01/2017
4FGFR3Ex3NM_000142.4:c.169G>Ap.Val57Met | p.V57MLRG_1021t1:c.169G>A, LRG_1021t2:c.169G>A, NM_000142.3:c.169G>A, NM_000142.4:c.169G>A, NM_001163213.1:c.169G>A, NM_022965.2:c.169G>A, NM_022965.3:c.169G>ALikely benign03/30/2016 
5FGFR3Ex3NM_000142.4:c.252G>Ap.Ser84= | p.S84=NM_000142.3:c.252G>A, NM_000142.4:c.252G>A, NM_001163213.1:c.252G>A, NM_022965.2:c.252G>A, NM_022965.3:c.252G>AVOUS12/19/2014
6FGFR3Ex3NM_000142.4:c.272C>Tp.Pro91Leu | p.P91LNM_000142.3:c.272C>T, NM_000142.4:c.272C>T, NM_001163213.1:c.272C>T, NM_022965.2:c.272C>T, NM_022965.3:c.272C>TVOUS01/10/2017
7FGFR3Ex3NM_000142.4:c.335G>Ap.Arg112Gln | p.R112QLRG_1021t1:c.335G>A, LRG_1021t2:c.335G>A, NM_000142.3:c.335G>A, NM_000142.4:c.335G>A, NM_001163213.1:c.335G>A, NM_022965.2:c.335G>A, NM_022965.3:c.335G>AVOUS09/12/2016
8FGFR3Ex3NM_000142.4:c.346C>Tp.Arg116Cys | p.R116CNM_000142.3:c.346C>T, NM_000142.4:c.346C>T, NM_001163213.1:c.346C>T, NM_022965.2:c.346C>T, NM_022965.3:c.346C>TVOUS06/30/2016
9FGFR3Ex3NM_000142.4:c.348C>Tp.Arg116= | p.R116=NM_000142.3:c.348C>T, NM_000142.4:c.348C>T, NM_001163213.1:c.348C>T, NM_022965.2:c.348C>T, NM_022965.3:c.348C>TBenign04/09/2015 
10FGFR3Ex4NM_000142.4:c.393G>Ap.Ser131= | p.S131=LRG_1021t1:c.393G>A, LRG_1021t2:c.393G>A, NM_000142.3:c.393G>A, NM_000142.4:c.393G>A, NM_001163213.1:c.393G>A, NM_022965.2:c.393G>A, NM_022965.3:c.393G>ABenign04/20/2016 
11FGFR3Ex5NM_000142.4:c.588C>Tp.Arg196= | p.R196=NM_000142.3:c.588C>T, NM_000142.4:c.588C>T, NM_001163213.1:c.588C>T, NM_022965.2:c.588C>T, NM_022965.3:c.588C>TBenign04/09/2015 
12FGFR3Ex5NM_000142.4:c.598C>Tp.Arg200Cys | p.R200CLRG_1021t1:c.598C>T, LRG_1021t2:c.598C>T, NM_000142.3:c.598C>T, NM_000142.4:c.598C>T, NM_001163213.1:c.598C>T, NM_022965.2:c.598C>T, NM_022965.3:c.598C>TVOUS04/27/2016
13FGFR3Ex5NM_000142.4:c.603T>Cp.Ile201= | p.I201=NM_000142.3:c.603T>C, NM_000142.4:c.603T>C, NM_001163213.1:c.603T>C, NM_022965.2:c.603T>C, NM_022965.3:c.603T>CBenign08/28/2018 
14FGFR3Ex5NM_000142.4:c.615+6C>TLRG_1021t1:c.615+6C>T, LRG_1021t2:c.615+6C>T, NM_000142.3:c.615+6C>T, NM_000142.4:c.615+6C>T, NM_001163213.1:c.615+6C>T, NM_022965.2:c.615+6C>T, NM_022965.3:c.615+6C>TVOUS05/02/2016
15FGFR3Ex5NM_000142.4:c.615+8C>GNM_000142.3:c.615+8C>G, NM_000142.4:c.615+8C>G, NM_001163213.1:c.615+8C>G, NM_022965.2:c.615+8C>G, NM_022965.3:c.615+8C>GBenign01/20/2015 
16FGFR3Ex6NM_000142.4:c.666C>Tp.Asp222= | p.D222=LRG_1021t1:c.666C>T, LRG_1021t2:c.666C>T, NM_000142.3:c.666C>T, NM_000142.4:c.666C>T, NM_001163213.1:c.666C>T, NM_022965.2:c.666C>T, NM_022965.3:c.666C>TVOUS08/03/2016
17FGFR3Ex6NM_000142.4:c.678C>Tp.Tyr226= | p.Y226=NM_000142.3:c.678C>T, NM_000142.4:c.678C>T, NM_001163213.1:c.678C>T, NM_022965.2:c.678C>T, NM_022965.3:c.678C>TBenign04/22/2015 
18FGFR3Ex6NM_000142.4:c.712C>Tp.Arg238Trp | p.R238WLRG_1021t1:c.712C>T, LRG_1021t2:c.712C>T, NM_000142.3:c.712C>T, NM_000142.4:c.712C>T, NM_001163213.1:c.712C>T, NM_022965.2:c.712C>T, NM_022965.3:c.712C>TVOUS03/30/2016
19FGFR3Ex7NM_000142.4:c.742C>Tp.Arg248Cys | p.R248CLRG_1021t1:c.742C>T, LRG_1021t2:c.742C>T, NM_000142.3:c.742C>T, NM_000142.4:c.742C>T, NM_001163213.1:c.742C>T, NM_022965.2:c.742C>T, NM_022965.3:c.742C>TPathogenic09/26/2019 
20FGFR3Ex7NM_000142.4:c.746C>Gp.Ser249Cys | p.S249CLRG_1021t1:c.746C>G, LRG_1021t2:c.746C>G, NM_000142.3:c.746C>G, NM_000142.4:c.746C>G, NM_001163213.1:c.746C>G, NM_022965.2:c.746C>G, NM_022965.3:c.746C>GPathogenic10/22/2019 
21FGFR3Ex7NM_000142.4:c.749C>Gp.Pro250Arg | p.P250RLRG_1021t1:c.749C>G, LRG_1021t2:c.749C>G, NM_000142.3:c.749C>G, NM_000142.4:c.749C>G, NM_001163213.1:c.749C>G, NM_022965.2:c.749C>G, NM_022965.3:c.749C>GPathogenic06/20/2018 
22FGFR3Ex7NM_000142.4:c.835A>Tp.Ser279Cys | p.S279CLRG_1021t1:c.835A>T, LRG_1021t2:c.835A>T, NM_000142.3:c.835A>T, NM_000142.4:c.835A>T, NM_001163213.1:c.835A>T, NM_022965.2:c.835A>T, NM_022965.3:c.835A>TPathogenic12/28/2017 
23FGFR3Ex7NM_000142.4:c.882T>Cp.Asn294= | p.N294=LRG_1021t1:c.882T>C, LRG_1021t2:c.882T>C, NM_000142.3:c.882T>C, NM_000142.4:c.882T>C, NM_001163213.1:c.882T>C, NM_022965.2:c.882T>C, NM_022965.3:c.882T>CBenign08/28/2018 
24FGFR3Ex8NM_000142.4:c.1002C>Tp.Ala334= | p.A334=LRG_1021t1:c.1002C>T, LRG_1021t2:c.1082-567C>T, NM_000142.3:c.1002C>T, NM_000142.4:c.1002C>T, NM_001163213.1:c.1082-567C>T, NM_022965.2:c.931-1061C>T, NM_022965.3:c.931-1061C>TVOUS11/30/2017
25FGFR3Ex8NM_000142.4:c.1014C>Tp.Thr338= | p.T338=NM_000142.3:c.1014C>T, NM_000142.4:c.1014C>T, NM_001163213.1:c.1082-555C>T, NM_022965.2:c.931-1049C>T, NM_022965.3:c.931-1049C>TBenign07/13/2015 
26FGFR3Ex8NM_000142.4:c.1055C>Tp.Ala352Val | p.A352VLRG_1021t1:c.1055C>T, LRG_1021t2:c.1082-514C>T, NM_000142.3:c.1055C>T, NM_000142.4:c.1055C>T, NM_001163213.1:c.1082-514C>T, NM_022965.2:c.931-1008C>T, NM_022965.3:c.931-1008C>TVOUS04/27/2016
27FGFR3Ex9NM_000142.4:c.1118A>Gp.Tyr373Cys | p.Y373CLRG_1021t1:c.1118A>G, LRG_1021t2:c.1124A>G, NM_000142.3:c.1118A>G, NM_000142.4:c.1118A>G, NM_001163213.1:c.1124A>G, NM_022965.2:c.931-452A>G, NM_022965.3:c.931-452A>GPathogenic03/02/2018 
28FGFR3Ex9NM_000142.4:c.1138G>Ap.Gly380Arg | p.G380RNM_000142.4:c.1138G>APathogenic10/05/2018 
29FGFR3Ex9NM_000142.4:c.1138G>Cp.Gly380Arg | p.G380RLRG_1021t1:c.1138G>C, LRG_1021t2:c.1144G>C, NM_000142.3:c.1138G>C, NM_000142.4:c.1138G>C, NM_001163213.1:c.1144G>C, NM_022965.2:c.931-432G>C, NM_022965.3:c.931-432G>CPathogenic02/21/2017 
30FGFR3Ex9NM_000142.4:c.1146C>Tp.Gly382= | p.G382=LRG_1021t1:c.1146C>T, LRG_1021t2:c.1152C>T, NM_000142.3:c.1146C>T, NM_000142.4:c.1146C>T, NM_001163213.1:c.1152C>T, NM_022965.2:c.931-424C>T, NM_022965.3:c.931-424C>TVOUS09/03/2019
31FGFR3Ex9NM_000142.4:c.1150T>Cp.Phe384Leu | p.F384LNM_000142.3:c.1150T>C, NM_000142.4:c.1150T>C, NM_001163213.1:c.1156T>C, NM_022965.2:c.931-420T>C, NM_022965.3:c.931-420T>CBenign07/14/2016 
32FGFR3Ex9NM_000142.4:c.1263A>Gp.Arg421= | p.R421=LRG_1021t1:c.1263A>G, LRG_1021t2:c.1269A>G, NM_000142.3:c.1263A>G, NM_000142.4:c.1263A>G, NM_001163213.1:c.1269A>G, NM_022965.2:c.931-307A>G, NM_022965.3:c.931-307A>GVOUS11/08/2016
33FGFR3Ex10NM_000142.4:c.1345C>Tp.Pro449Ser | p.P449SNM_000142.3:c.1345C>T, NM_000142.4:c.1345C>T, NM_001163213.1:c.1351C>T, NM_022965.2:c.1009C>T, NM_022965.3:c.1009C>TBenign04/22/2015 
34FGFR3Ex10NM_000142.4:c.1349C>Tp.Thr450Met | p.T450MNM_000142.3:c.1349C>T, NM_000142.4:c.1349C>T, NM_001163213.1:c.1355C>T, NM_022965.2:c.1013C>T, NM_022965.3:c.1013C>TBenign04/09/2015 
35FGFR3Ex10NM_000142.4:c.1371C>Tp.Leu457= | p.L457=LRG_1021t1:c.1371C>T, LRG_1021t2:c.1377C>T, NM_000142.3:c.1371C>T, NM_000142.4:c.1371C>T, NM_001163213.1:c.1377C>T, NM_022965.2:c.1035C>T, NM_022965.3:c.1035C>TBenign06/17/2019 
36FGFR3Ex11NM_000142.4:c.1497C>Tp.Ala499= | p.A499=LRG_1021t1:c.1497C>T, LRG_1021t2:c.1503C>T, NM_000142.3:c.1497C>T, NM_000142.4:c.1497C>T, NM_001163213.1:c.1503C>T, NM_022965.2:c.1161C>T, NM_022965.3:c.1161C>TVOUS06/07/2016
37FGFR3Ex12NM_000142.4:c.1550A>Gp.Lys517Arg | p.K517RNM_000142.3:c.1550A>G, NM_000142.4:c.1550A>G, NM_001163213.1:c.1556A>G, NM_022965.2:c.1214A>G, NM_022965.3:c.1214A>GVOUS06/09/2015
38FGFR3Ex12NM_000142.4:c.1596C>Tp.Ile532= | p.I532=LRG_1021t1:c.1596C>T, LRG_1021t2:c.1602C>T, NM_000142.3:c.1596C>T, NM_000142.4:c.1596C>T, NM_001163213.1:c.1602C>T, NM_022965.2:c.1260C>T, NM_022965.3:c.1260C>TVOUS02/26/2016
39FGFR3Ex12NM_000142.4:c.1620C>Gp.Asn540Lys | p.N540KLRG_1021t1:c.1620C>G, LRG_1021t2:c.1626C>G, NM_000142.3:c.1620C>G, NM_000142.4:c.1620C>G, NM_001163213.1:c.1626C>G, NM_022965.2:c.1284C>G, NM_022965.3:c.1284C>GPathogenic04/05/2018 
40FGFR3Ex12NM_000142.4:c.1620C>Ap.Asn540Lys | p.N540KNM_000142.3:c.1620C>A, NM_000142.4:c.1620C>A, NM_001163213.1:c.1626C>A, NM_022965.2:c.1284C>A, NM_022965.3:c.1284C>APathogenic06/02/2018 
41FGFR3Ex13NM_000142.4:c.1657G>Ap.Val553Met | p.V553MLRG_1021t1:c.1657G>A, LRG_1021t2:c.1663G>A, NM_000142.3:c.1657G>A, NM_000142.4:c.1657G>A, NM_001163213.1:c.1663G>A, NM_022965.2:c.1321G>A, NM_022965.3:c.1321G>AVOUS06/29/2018
42FGFR3Ex13NM_000142.4:c.1830C>Gp.Ser610= | p.S610=NM_000142.3:c.1830C>G, NM_000142.4:c.1830C>G, NM_001163213.1:c.1836C>G, NM_022965.2:c.1494C>G, NM_022965.3:c.1494C>GVOUS07/13/2015
43FGFR3Ex14NM_000142.4:c.1923C>Tp.Asp641= | p.D641=LRG_1021t1:c.1923C>T, LRG_1021t2:c.1929C>T, NM_000142.3:c.1923C>T, NM_000142.4:c.1923C>T, NM_001163213.1:c.1929C>T, NM_022965.2:c.1587C>T, NM_022965.3:c.1587C>TVOUS10/20/2016
44FGFR3Ex14NM_000142.4:c.1948A>Gp.Lys650Glu | p.K650ELRG_1021t1:c.1948A>G, LRG_1021t2:c.1954A>G, NM_000142.3:c.1948A>G, NM_000142.4:c.1948A>G, NM_001163213.1:c.1954A>G, NM_022965.2:c.1612A>G, NM_022965.3:c.1612A>GPathogenic04/02/2020 
45FGFR3Ex16NM_000142.4:c.2043G>Ap.Gly681= | p.G681=LRG_1021t1:c.2043G>A, LRG_1021t2:c.2049G>A, NM_000142.3:c.2043G>A, NM_000142.4:c.2043G>A, NM_001163213.1:c.2049G>A, NM_012318.2:c.*7866C>T, NM_022965.2:c.1707G>A, NM_022965.3:c.1707G>A, XM_005247969.1:c.*7866C>T, XM_005247970.1:c.*7866C>TLikely benign03/23/2018 
46FGFR3Ex16NM_000142.4:c.2149G>Ap.Ala717Thr | p.A717TLRG_1021t1:c.2149G>A, LRG_1021t2:c.2155G>A, NM_000142.3:c.2149G>A, NM_000142.4:c.2149G>A, NM_001163213.1:c.2155G>A, NM_012318.2:c.*7760C>T, NM_022965.2:c.1813G>A, NM_022965.3:c.1813G>A, XM_005247969.1:c.*7760C>T, XM_005247970.1:c.*7760C>TLikely benign05/12/2017 
47FGFR3Ex17NM_000142.4:c.2183G>Ap.Arg728Gln | p.R728QLRG_1021t1:c.2183G>A, LRG_1021t2:c.2189G>A, NM_000142.3:c.2183G>A, NM_000142.4:c.2183G>A, NM_001163213.1:c.2189G>A, NM_012318.2:c.*7581C>T, NM_022965.2:c.1847G>A, NM_022965.3:c.1847G>A, XM_005247969.1:c.*7581C>T, XM_005247970.1:c.*7581C>TVOUS08/31/2016
48FGFR3Ex17NM_000142.4:c.2201C>Tp.Ala734Val | p.A734VLRG_1021t1:c.2201C>T, LRG_1021t2:c.2207C>T, NM_000142.3:c.2201C>T, NM_000142.4:c.2201C>T, NM_001163213.1:c.2207C>T, NM_012318.2:c.*7563G>A, NM_022965.2:c.1865C>T, NM_022965.3:c.1865C>T, XM_005247969.1:c.*7563G>A, XM_005247970.1:c.*7563G>AVOUS11/02/2017
49FGFR3Ex18NM_000142.4:c.2287C>Gp.Leu763Val | p.L763VLRG_1021t1:c.2287C>G, LRG_1021t2:c.2293C>G, NM_000142.3:c.2287C>G, NM_000142.4:c.2287C>G, NM_001163213.1:c.2293C>G, NM_012318.2:c.*7296G>C, NM_022965.2:c.1951C>G, NM_022965.3:c.1951C>G, XM_005247969.1:c.*7296G>C, XM_005247970.1:c.*7296G>CVOUS07/02/2019
50FGFR3Ex18NM_000142.4:c.2396C>Tp.Pro799Leu | p.P799LLRG_1021t1:c.2396C>T, LRG_1021t2:c.2402C>T, NM_000142.3:c.2396C>T, NM_000142.4:c.2396C>T, NM_001163213.1:c.2402C>T, NM_012318.2:c.*7187G>A, NM_022965.2:c.2060C>T, NM_022965.3:c.2060C>T, XM_005247969.1:c.*7187G>A, XM_005247970.1:c.*7187G>AVOUS11/28/2017

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.